For years scientists have studied genetics to identify the various drivers associated with inherited heart conditions, including sudden cardiac arrest, which strikes without warning, is common, life-threatening and often inherited. But traditional DNA sequencing methods have been limited due to the constraint of only being able to examine a few genes at a time, making research efforts costly, time-consuming and tedious.
Peter Duncan, senior marketing manager for Illumina’s Clinical Solutions, explains how a new product can bring simplicity and speed to the research workflow.
What are the challenges of the traditional approach?
The initial studies of inherited cardiac conditions have typically been conducted using DNA sequencing approaches via the Sanger method. Researchers could only sequence a few genes at a time. As a result, the process of interrogating the genetics of an individual has been largely hypothesis driven – start with the observed condition, then test only for those genes. Research has shown that there are not necessarily one to one relationships between a single phenotype and a single genotype and that having a macro view can be a benefit to researchers who seek to better understand the underlying biology.
Tell us about the new TruSight Cardio Sequencing Kit and how it can improve the process.
Illumina has introduced a new gene panel that aims to expedite the process of identifying variants that are potentially linked to inherited cardiac conditions with a streamlined, integrated and affordable workflow that generates results within a few days.
The TruSight Cardio Sequencing Kit, along with a supported Illumina sequencer such as the MiSeq or MiSeqDx, is a solution for the identification of variants in 174 genes across 17 different inherited cardiac conditions (ICCs). This gives clinical researchers the ability to read several potential ICC genes at the same time — all at a cost of approximately $1 US per gene.
We’ve curated and categorized the gene panel in collaboration with Dr. Stuart Cook from Imperial College London. With this solution, clinical research labs can interrogate as few or as many genes as they want with outstanding sequencing coverage at an attractive price point. The TruSight Cardio Sequencing Kit also allows a laboratory to expand their ICC menu while maintaining costs in order to meet the evolving needs of their institution.
What were the advantages of collaborating with Dr. Cook?
Dr. Cook is very well versed in next-generation sequencing, as well as cardiac genomics, and was integral to developing the product. Based on Dr. Cook’s feedback, we performed several iterations during development to ensure that it met the demanding needs of cardiac researchers with respect to accuracy, sensitivity, and specificity.
Stringent tests both internally and across eight beta sites have demonstrated that the TruSight Cardio Sequencing Kit is both highly accurate and reproducible. Each sample is sequenced with high coverage uniformity across the target regions, with 99.5 percent of targeted regions covered at a minimum of 20X and a mean depth of coverage of 250X.
How will the TruSight Cardio Sequencing Kit benefit the lab?
The TruSight Cardio Sequencing Kit comes with all reagents needed to perform a single run on an Illumina supported sequencer. Initially released for the Illumina MiSeq and MiSeq Dx (RUO mode), the TruSight Cardio Sequencing Kit enables up to 12 samples to be run simultaneously. When customers order this product they get the panel of genes, the DNA preparation reagents, as well as the core sequencing consumables all using a single catalog number.
While clinical research labs can help provide deeper biological insights using this solution, the hidden, and I would argue, larger value afforded is the ability to ‘unlock’ genes from prior sequencing runs on demand use software solutions like Illumina’s VariantStudio. This enables a lab to perform in-house validation for newly requested genes without having to obtain additional samples since the sequencing has already been previously completed – dramatically reducing time to results. The more that we know genetically, the more we can actually leverage tools like TruSight Cardio to accelerate research which may have real impact on people’s lives someday.
The TruSight Cardio Sequencing Kit is now available and will begin shipping March 16, 2015.
For Research Use Only. Not for use in diagnostic procedures.